Phenotypes

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Heizer and Hervey (1937): "Calves showing the defect died within the first week after parturition. ... The principal abnormality observed in the dead calves was the impaction of the premolar teeth in the mandible which was greatly reduced in length and width giving a "parrot-mouth" appearance."

Sasaki et al. (2021): "To identify variants associated with calf mortality in Japanese Black cattle, we evaluated calf mortality as a categorical trait with a threshold model and performed a genome-wide copy number variation (CNV) association study on calf mortality. ... We identified a 44-kb deleted-type CNV ranging from 103,317,687 to 103,361,802 bp on chromosome 5, which was associated with the mortality of 1–180-day-old calves." Sasaki and...

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In what must be a sign of the times, Karageorgos et al. (2007) documented the first reported occurrence of this disorder in cattle and, in the same paper, also reported its molecular basis; in this case a missense mutation E452K (c.1354G>A) in the gene for alpha-N-acetylglucosaminidase (NAGLU).

Seaman et al. (1987) describe "an unusual nervous condition in Murray Grey cattle following treatment with avermectin B1 on a farm in the central tablelands of New South Wales. Eight cattle developed severe signs of central nervous system derangement and died or were euthanased. The neurological syndrome was reproduced in a field trial using avermectin B1. ... The greater than ten-fold concentrations of avermectin B1, detected in the brains of...

See 'OMIA 002423-9913 : Multiple ocular defects, WFDC1-related in Bos taurus' for more detail on this disease in Japanese Black cattle.

Abbasi et al. (2009) reported that this disorder is due to a frameshift mutation resulting from the insertion of a single base in the gene for WFDC1.

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